Canonical Allele Identifier: CA128740140

Gene: SIL1 MATR3 SNHG4

Linked Data

• dbSNP Id: rs932605743
• gnomAD v3: 5-139273849-A-G
• gnomAD v4: 5-139273849-A-G
• MyVariant Identifiers: chr5:g.138609538A>G (hg19) ; chr5:g.139273849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139273849A>G , CM000667.2:g.139273849A>G	GRCh38
NC_000005.9:g.138609538A>G , CM000667.1:g.138609538A>G	GRCh37
NC_000005.8:g.138637437A>G	NCBI36
NG_012846.1:g.4747A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000506147.5:c.-331A>G	ENSP00000423521.1:n.-331A>G
ENST00000508744.1:n.466-195T>C (SIL1)
ENST00000509400.5:n.293+6719T>C (SIL1)
ENST00000509990.5:c.-599A>G	ENSP00000423533.1:n.-599A>G
ENST00000512107.5:c.-548A>G	ENSP00000423695.1:n.-548A>G
NM_001194954.1:c.-599A>G (MATR3)	NP_001181883.1:n.-599A>G
NM_001282278.1:c.-606A>G (MATR3)	NP_001269207.1:n.-606A>G
NM_199189.2:c.-681A>G (MATR3)	NP_954659.1:n.-681A>G
NR_003141.3:n.98A>G (SNHG4)
NR_036536.1:n.98A>G (SNHG4)